OBO ID: DOID:0050725
Term Name: tyrosinemia type II Search Ontology:
Synonyms:
  • Oculocutaneous tyrosinemia
  • Richner-Hanhart syndrome
Definition: A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (2)
References:
Ontology: Human Disease   ( DOID:0050725 )
OTHER tyrosinemia type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TAT Tyrosinemia, type II 276600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None